These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 31645350)

  • 1. A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).
    Ritter DI; Rao S; Kulkarni S; Madhavan S; Offit K; Plon SE
    Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31645350
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
    Rivera-Muñoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W; Eng C; Funke B; Hegde M; Hershberger RE; Mao R; Steiner RD; Vincent LM; Martin CL; Plon SE; Ramos E; Rehm HL; Watson M; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1614-1622. PubMed ID: 30311389
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluating ClinGen variant curation expert panels' application of PVS1 code.
    Wang X; Li H; Luo H; Zou Y; Li H; Qin Y; Song J
    Eur J Med Genet; 2024 Feb; 67():104909. PubMed ID: 38199457
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
    Danos AM; Ritter DI; Wagner AH; Krysiak K; Sonkin D; Micheel C; McCoy M; Rao S; Raca G; Boca SM; Roy A; Barnell EK; McMichael JF; Kiwala S; Coffman AC; Kujan L; Kulkarni S; Griffith M; Madhavan S; Griffith OL;
    Hum Mutat; 2018 Nov; 39(11):1721-1732. PubMed ID: 30311370
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
    Milko LV; Funke BH; Hershberger RE; Azzariti DR; Lee K; Riggs ER; Rivera-Munoz EA; Weaver MA; Niehaus A; Currey EL; Craigen WJ; Mao R; Offit K; Steiner RD; Martin CL; Rehm HL; Watson MS; Ramos EM; Plon SE; Berg JS
    Genet Med; 2019 Apr; 21(4):987-993. PubMed ID: 30181607
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
    Goldstein JL; McGlaughon J; Kanavy D; Goomber S; Pan Y; Deml B; Donti T; Kearns L; Seifert BA; Schachter M; Son RG; Thaxton C; Udani R; Bali D; Baudet H; Caggana M; Hung C; Kyriakopoulou L; Rosenblum L; Steiner R; Pinto E Vairo F; Wang Y; Watson M; Fernandez R; Weaver M; Clarke L; Rehder C
    Mol Genet Metab; 2023; 140(1-2):107715. PubMed ID: 37907381
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
    Kanavy DM; McNulty SM; Jairath MK; Brnich SE; Bizon C; Powell BC; Berg JS
    Genome Med; 2019 Nov; 11(1):77. PubMed ID: 31783775
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    Lee K; Krempely K; Roberts ME; Anderson MJ; Carneiro F; Chao E; Dixon K; Figueiredo J; Ghosh R; Huntsman D; Kaurah P; Kesserwan C; Landrith T; Li S; Mensenkamp AR; Oliveira C; Pardo C; Pesaran T; Richardson M; Slavin TP; Spurdle AB; Trapp M; Witkowski L; Yi CS; Zhang L; Plon SE; Schrader KA; Karam R
    Hum Mutat; 2018 Nov; 39(11):1553-1568. PubMed ID: 30311375
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
    DiStefano MT; Hemphill SE; Oza AM; Siegert RK; Grant AR; Hughes MY; Cushman BJ; Azaiez H; Booth KT; Chapin A; Duzkale H; Matsunaga T; Shen J; Zhang W; Kenna M; Schimmenti LA; Tekin M; Rehm HL; Tayoun ANA; Amr SS;
    Genet Med; 2019 Oct; 21(10):2239-2247. PubMed ID: 30894701
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Optimising clinical care through
    Luo X; Maciaszek JL; Thompson BA; Leong HS; Dixon K; Sousa S; Anderson M; Roberts ME; Lee K; Spurdle AB; Mensenkamp AR; Brannan T; Pardo C; Zhang L; Pesaran T; Wei S; Fasaye GA; Kesserwan C; Shirts BH; Davis JL; Oliveira C; Plon SE; Schrader KA; Karam R;
    J Med Genet; 2023 Jun; 60(6):568-575. PubMed ID: 36600593
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
    Mester JL; Ghosh R; Pesaran T; Huether R; Karam R; Hruska KS; Costa HA; Lachlan K; Ngeow J; Barnholtz-Sloan J; Sesock K; Hernandez F; Zhang L; Milko L; Plon SE; Hegde M; Eng C
    Hum Mutat; 2018 Nov; 39(11):1581-1592. PubMed ID: 30311380
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Somatic cancer variant curation and harmonization through consensus minimum variant level data.
    Ritter DI; Roychowdhury S; Roy A; Rao S; Landrum MJ; Sonkin D; Shekar M; Davis CF; Hart RK; Micheel C; Weaver M; Van Allen EM; Parsons DW; McLeod HL; Watson MS; Plon SE; Kulkarni S; Madhavan S;
    Genome Med; 2016 Nov; 8(1):117. PubMed ID: 27814769
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline
    Hatton JN; Frone MN; Cox HC; Crowley SB; Hiraki S; Yokoyama NN; Abul-Husn NS; Amatruda JF; Anderson MJ; Bofill-De Ros X; Carr AG; Chao EC; Chen KS; Gu S; Higgs C; Machado J; Ritter D; Schultz KA; Soper ER; Wu MK; Mester JL; Kim J; Foulkes WD; Witkowski L; Stewart DR
    Hum Mutat; 2023; 2023():. PubMed ID: 38084291
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
    Preston CG; Wright MW; Madhavrao R; Harrison SM; Goldstein JL; Luo X; Wand H; Wulf B; Cheung G; Mandell ME; Tong H; Cheng S; Iacocca MA; Pineda AL; Popejoy AB; Dalton K; Zhen J; Dwight SS; Babb L; DiStefano M; O'Daniel JM; Lee K; Riggs ER; Zastrow DB; Mester JL; Ritter DI; Patel RY; Subramanian SL; Milosavljevic A; Berg JS; Rehm HL; Plon SE; Cherry JM; Bustamante CD; Costa HA;
    Genome Med; 2022 Jan; 14(1):6. PubMed ID: 35039090
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
    Patel MJ; DiStefano MT; Oza AM; Hughes MY; Wilcox EH; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Nara K; Kenna M; Azaiez H; Booth KT; Avraham KB; Kremer H; Griffith AJ; Rehm HL; Amr SS; Tayoun ANA;
    Genet Med; 2021 Nov; 23(11):2208-2212. PubMed ID: 34230634
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
    Luo X; Feurstein S; Mohan S; Porter CC; Jackson SA; Keel S; Chicka M; Brown AL; Kesserwan C; Agarwal A; Luo M; Li Z; Ross JE; Baliakas P; Pineda-Alvarez D; DiNardo CD; Bertuch AA; Mehta N; Vulliamy T; Wang Y; Nichols KE; Malcovati L; Walsh MF; Rawlings LH; McWeeney SK; Soulier J; Raimbault A; Routbort MJ; Zhang L; Ryan G; Speck NA; Plon SE; Wu D; Godley LA
    Blood Adv; 2019 Oct; 3(20):2962-2979. PubMed ID: 31648317
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
    Horak P; Griffith M; Danos AM; Pitel BA; Madhavan S; Liu X; Chow C; Williams H; Carmody L; Barrow-Laing L; Rieke D; Kreutzfeldt S; Stenzinger A; Tamborero D; Benary M; Rajagopal PS; Ida CM; Lesmana H; Satgunaseelan L; Merker JD; Tolstorukov MY; Campregher PV; Warner JL; Rao S; Natesan M; Shen H; Venstrom J; Roy S; Tao K; Kanagal-Shamanna R; Xu X; Ritter DI; Pagel K; Krysiak K; Dubuc A; Akkari YM; Li XS; Lee J; King I; Raca G; Wagner AH; Li MM; Plon SE; Kulkarni S; Griffith OL; Chakravarty D; Sonkin D
    Genet Med; 2022 May; 24(5):986-998. PubMed ID: 35101336
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
    Burdon KP; Graham P; Hadler J; Hulleman JD; Pasutto F; Boese EA; Craig JE; Fingert JH; Hewitt AW; Siggs OM; Whisenhunt K; Young TL; Mackey DA; Dubowsky A; Souzeau E
    Hum Mutat; 2022 Dec; 43(12):2170-2186. PubMed ID: 36217948
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical Interpretation of Sequence Variants.
    Zhang J; Yao Y; He H; Shen J
    Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
    Walsh MF; Ritter DI; Kesserwan C; Sonkin D; Chakravarty D; Chao E; Ghosh R; Kemel Y; Wu G; Lee K; Kulkarni S; Hedges D; Mandelker D; Ceyhan-Birsoy O; Luo M; Drazer M; Zhang L; Offit K; Plon SE
    Hum Mutat; 2018 Nov; 39(11):1542-1552. PubMed ID: 30311369
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.